ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741868853
Gene: RBM48
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350296.1:p.Gly40Trp
CA4341908
NM_001363367.1:c.118G>T